| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43340042C>T | CA123774 | MPL | c.769C>T (p.Arg257Cys) c.748C>T (p.Arg250Cys) n.769C>T c.940C>T (p.Arg314Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.43340042C= | CA1141580748 | MPL | c.769C= (p.Arg257=) c.748C= (p.Arg250=) n.769C= c.940C= (p.Arg314=) | dbSNP |